Canonical Allele Identifier: CA2061003
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs766753997
ExAC: 2:203242246 A / T
gnomAD v2: 2-203242246-A-T
gnomAD v3: 2-202377523-A-T
gnomAD v4: 2-202377523-A-T
MyVariant Identifiers: chr2:g.203242246A>T (hg19) chr2:g.202377523A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377523A>T , CM000664.2:g.202377523A>T GRCh38
NC_000002.11:g.203242246A>T , CM000664.1:g.203242246A>T GRCh37
NC_000002.10:g.202950491A>T NCBI36
NG_009363.1:g.6197A>T , LRG_712:g.6197A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.49A>T MANE Select ENSP00000363708.4:p.Thr17Ser
ENST00000374574.2:c.49A>T ENSP00000363702.2:p.Thr17Ser
ENST00000374580.8:c.49A>T ENSP00000363708.4:p.Thr17Ser
NM_001204.6:c.49A>T , LRG_712t1:c.49A>T NP_001195.2:p.Thr17Ser
XM_011511687.1:c.49A>T XP_011509989.1:p.Thr17Ser
XM_011511688.1:c.49A>T XP_011509990.1:p.Thr17Ser
NM_001204.7:c.49A>T MANE Select NP_001195.2:p.Thr17Ser
Search 100 bp 5'
Search 100 bp 3'