Canonical Allele Identifier: CA365317154

Gene: BVES

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.105116699A>G , CM000668.2:g.105116699A>G	GRCh38
NC_000006.11:g.105564574A>G , CM000668.1:g.105564574A>G	GRCh37
NC_000006.10:g.105671267A>G	NCBI36
NG_046732.1:g.25476T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001199563.2:c.816+2T>C MANE Select	NP_001186492.1:n.816+2T>C
ENST00000314641.10:c.816+2T>C MANE Select	ENSP00000313172.5:n.816+2T>C
NM_001199563.1:c.816+2T>C	NP_001186492.1:n.816+2T>C
NM_007073.4:c.816+2T>C	NP_009004.2:n.816+2T>C
NM_147147.3:c.816+2T>C	NP_671488.1:n.816+2T>C
NM_147147.4:c.816+2T>C	NP_671488.1:n.816+2T>C
ENST00000314641.9:c.816+2T>C	ENSP00000313172.5:n.816+2T>C
ENST00000336775.9:c.816+2T>C	ENSP00000337259.5:n.816+2T>C
ENST00000446408.2:c.816+2T>C	ENSP00000397310.2:n.816+2T>C
XM_011535398.1:c.816+2T>C	XP_011533700.1:n.816+2T>C
XM_011535398.2:c.816+2T>C	XP_011533700.1:n.816+2T>C