Canonical Allele Identifier: CA64044380
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs570394434
MyVariant Identifiers: chr2:g.203421246G>T (hg19) chr2:g.202556523G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556523G>T , CM000664.2:g.202556523G>T GRCh38
NC_000002.11:g.203421246G>T , CM000664.1:g.203421246G>T GRCh37
NC_000002.10:g.203129491G>T NCBI36
NG_009363.1:g.185197G>T , LRG_712:g.185197G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2858G>T MANE Select ENSP00000363708.4:p.Ser953Ile
ENST00000638587.1:c.2789G>T ENSP00000491062.1:n.2789G>T
ENST00000374574.2:c.1587-3173G>T ENSP00000363702.2:n.1587-3173G>T
ENST00000374580.8:c.2858G>T ENSP00000363708.4:p.Ser953Ile
NM_001204.6:c.2858G>T , LRG_712t1:c.2858G>T NP_001195.2:p.Ser953Ile
XM_011511687.1:c.2858G>T XP_011509989.1:p.Ser953Ile
XM_011511688.1:c.1587-3173G>T XP_011509990.1:n.1587-3173G>T
NM_001204.7:c.2858G>T MANE Select NP_001195.2:p.Ser953Ile
Search 100 bp 5'
Search 100 bp 3'