Canonical Allele Identifier: CA64016400

Gene: BMPR2

Linked Data

• dbSNP Id: rs944629108
• MyVariant Identifiers: chr2:g.203384556_203384559del (hg19) ; chr2:g.202519833_202519836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202519834_202519837del , CM000664.2:g.202519834_202519837del	GRCh38
NC_000002.11:g.203384557_203384560del , CM000664.1:g.203384557_203384560del	GRCh37
NC_000002.10:g.203092802_203092805del	NCBI36
NG_009363.1:g.148508_148511del , LRG_712:g.148508_148511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.853-253_853-250del MANE Select	ENSP00000363708.4:n.853-253_853-250del
ENST00000638587.1:c.784-253_784-250del	ENSP00000491062.1:n.784-253_784-250del
ENST00000374574.2:c.853-253_853-250del	ENSP00000363702.2:n.853-253_853-250del
ENST00000374580.8:c.853-253_853-250del	ENSP00000363708.4:n.853-253_853-250del
NM_001204.6:c.853-253_853-250del , LRG_712t1:c.853-253_853-250del	NP_001195.2:n.853-253_853-250del
XM_011511687.1:c.853-253_853-250del	XP_011509989.1:n.853-253_853-250del
XM_011511688.1:c.853-253_853-250del	XP_011509990.1:n.853-253_853-250del
NM_001204.7:c.853-253_853-250del MANE Select	NP_001195.2:n.853-253_853-250del