Canonical Allele Identifier: CA2061604
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs191901528
ExAC: 2:203421293 T / C
gnomAD v2: 2-203421293-T-C
gnomAD v3: 2-202556570-T-C
gnomAD v4: 2-202556570-T-C
MyVariant Identifiers: chr2:g.203421293T>C (hg19) chr2:g.202556570T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556570T>C , CM000664.2:g.202556570T>C GRCh38
NC_000002.11:g.203421293T>C , CM000664.1:g.203421293T>C GRCh37
NC_000002.10:g.203129538T>C NCBI36
NG_009363.1:g.185244T>C , LRG_712:g.185244T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2866+39T>C MANE Select ENSP00000363708.4:n.2866+39T>C
ENST00000638587.1:c.2797+39T>C ENSP00000491062.1:n.2797+39T>C
ENST00000374574.2:c.1587-3126T>C ENSP00000363702.2:n.1587-3126T>C
ENST00000374580.8:c.2866+39T>C ENSP00000363708.4:n.2866+39T>C
NM_001204.6:c.2866+39T>C , LRG_712t1:c.2866+39T>C NP_001195.2:n.2866+39T>C
XM_011511687.1:c.2866+39T>C XP_011509989.1:n.2866+39T>C
XM_011511688.1:c.1587-3126T>C XP_011509990.1:n.1587-3126T>C
NM_001204.7:c.2866+39T>C MANE Select NP_001195.2:n.2866+39T>C
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