Canonical Allele Identifier: CA430839557
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383658_203383659insAATCAA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518936_202518937insATCAAA , CM000664.2:g.202518936_202518937insATCAAA GRCh38
NC_000002.11:g.203383659_203383660insATCAAA , CM000664.1:g.203383659_203383660insATCAAA GRCh37
NC_000002.10:g.203091904_203091905insATCAAA NCBI36
NG_009363.1:g.147610_147611insATCAAA , LRG_712:g.147610_147611insATCAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.736_737insATCAAA MANE Select ENSP00000363708.4:p.Asn245_Ile246insAsnGln
ENST00000638587.1:c.667_668insATCAAA ENSP00000491062.1:p.Asn222_Ile223insAsnGln
ENST00000374574.2:c.736_737insATCAAA ENSP00000363702.2:p.Asn245_Ile246insAsnGln
ENST00000374580.8:c.736_737insATCAAA ENSP00000363708.4:p.Asn245_Ile246insAsnGln
NM_001204.6:c.736_737insATCAAA , LRG_712t1:c.736_737insATCAAA NP_001195.2:p.Asn245_Ile246insAsnGln
XM_011511687.1:c.736_737insATCAAA XP_011509989.1:p.Asn245_Ile246insAsnGln
XM_011511688.1:c.736_737insATCAAA XP_011509990.1:p.Asn245_Ile246insAsnGln
NM_001204.7:c.736_737insATCAAA MANE Select NP_001195.2:p.Asn245_Ile246insAsnGln
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