Canonical Allele Identifier: CA350340103
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383572G>C (hg19) chr2:g.202518849G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518849G>C , CM000664.2:g.202518849G>C GRCh38
NC_000002.11:g.203383572G>C , CM000664.1:g.203383572G>C GRCh37
NC_000002.10:g.203091817G>C NCBI36
NG_009363.1:g.147523G>C , LRG_712:g.147523G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.649G>C MANE Select ENSP00000363708.4:p.Val217Leu
ENST00000638587.1:c.580G>C ENSP00000491062.1:p.Val194Leu
ENST00000374574.2:c.649G>C ENSP00000363702.2:p.Val217Leu
ENST00000374580.8:c.649G>C ENSP00000363708.4:p.Val217Leu
NM_001204.6:c.649G>C , LRG_712t1:c.649G>C NP_001195.2:p.Val217Leu
XM_011511687.1:c.649G>C XP_011509989.1:p.Val217Leu
XM_011511688.1:c.649G>C XP_011509990.1:p.Val217Leu
NM_001204.7:c.649G>C MANE Select NP_001195.2:p.Val217Leu
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