Canonical Allele Identifier: CA2662706816

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202556635-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556635C>T , CM000664.2:g.202556635C>T	GRCh38
NC_000002.11:g.203421358C>T , CM000664.1:g.203421358C>T	GRCh37
NC_000002.10:g.203129603C>T	NCBI36
NG_009363.1:g.185309C>T , LRG_712:g.185309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2866+104C>T MANE Select	ENSP00000363708.4:n.2866+104C>T
ENST00000638587.1:c.2797+104C>T	ENSP00000491062.1:n.2797+104C>T
ENST00000374574.2:c.1587-3061C>T	ENSP00000363702.2:n.1587-3061C>T
ENST00000374580.8:c.2866+104C>T	ENSP00000363708.4:n.2866+104C>T
NM_001204.6:c.2866+104C>T , LRG_712t1:c.2866+104C>T	NP_001195.2:n.2866+104C>T
XM_011511687.1:c.2866+104C>T	XP_011509989.1:n.2866+104C>T
XM_011511688.1:c.1587-3061C>T	XP_011509990.1:n.1587-3061C>T
NM_001204.7:c.2866+104C>T MANE Select	NP_001195.2:n.2866+104C>T