Canonical Allele Identifier: CA2061531
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2914123
ClinVar RCV Id: RCV003764390
dbSNP Id: rs778368162
ExAC: 2:203420819 G / A
gnomAD v2: 2-203420819-G-A
gnomAD v3: 2-202556096-G-A
gnomAD v4: 2-202556096-G-A
MyVariant Identifiers: chr2:g.203420819G>A (hg19) chr2:g.202556096G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556096G>A , CM000664.2:g.202556096G>A GRCh38
NC_000002.11:g.203420819G>A , CM000664.1:g.203420819G>A GRCh37
NC_000002.10:g.203129064G>A NCBI36
NG_009363.1:g.184770G>A , LRG_712:g.184770G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2431G>A MANE Select ENSP00000363708.4:p.Gly811Ser
ENST00000638587.1:c.2362G>A ENSP00000491062.1:n.2362G>A
ENST00000374574.2:c.1586+3208G>A ENSP00000363702.2:n.1586+3208G>A
ENST00000374580.8:c.2431G>A ENSP00000363708.4:p.Gly811Ser
NM_001204.6:c.2431G>A , LRG_712t1:c.2431G>A NP_001195.2:p.Gly811Ser
XM_011511687.1:c.2431G>A XP_011509989.1:p.Gly811Ser
XM_011511688.1:c.1586+3208G>A XP_011509990.1:n.1586+3208G>A
NM_001204.7:c.2431G>A MANE Select NP_001195.2:p.Gly811Ser
Search 100 bp 5'
Search 100 bp 3'