Canonical Allele Identifier: CA350340599
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383749T>G (hg19) chr2:g.202519026T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519026T>G , CM000664.2:g.202519026T>G GRCh38
NC_000002.11:g.203383749T>G , CM000664.1:g.203383749T>G GRCh37
NC_000002.10:g.203091994T>G NCBI36
NG_009363.1:g.147700T>G , LRG_712:g.147700T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.826T>G MANE Select ENSP00000363708.4:p.Leu276Val
ENST00000638587.1:c.757T>G ENSP00000491062.1:p.Leu253Val
ENST00000374574.2:c.826T>G ENSP00000363702.2:p.Leu276Val
ENST00000374580.8:c.826T>G ENSP00000363708.4:p.Leu276Val
NM_001204.6:c.826T>G , LRG_712t1:c.826T>G NP_001195.2:p.Leu276Val
XM_011511687.1:c.826T>G XP_011509989.1:p.Leu276Val
XM_011511688.1:c.826T>G XP_011509990.1:p.Leu276Val
NM_001204.7:c.826T>G MANE Select NP_001195.2:p.Leu276Val
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