Canonical Allele Identifier: CA2581777195

Gene: VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70905884G>C , CM000664.2:g.70905884G>C	GRCh38
NC_000002.11:g.71133014G>C , CM000664.1:g.71133014G>C	GRCh37
NC_000002.10:g.70986522G>C	NCBI36
NG_030009.1:g.10295G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012476.3:c.247+5016G>C MANE Select	NP_036608.1:n.247+5016G>C
ENST00000234392.3:c.247+5016G>C MANE Select	ENSP00000234392.2:n.247+5016G>C
NM_012476.2:c.247+5016G>C	NP_036608.1:n.247+5016G>C
ENST00000234392.2:c.247+5016G>C	ENSP00000234392.2:n.247+5016G>C
ENST00000432367.6:c.71+5016G>C
XM_006711982.2:c.247+5016G>C	XP_006712045.1:n.247+5016G>C
XM_006711982.4:c.247+5016G>C	XP_006712045.1:n.247+5016G>C
XM_011532749.1:c.247+5016G>C	XP_011531051.1:n.247+5016G>C
XM_011532750.1:c.247+5016G>C	XP_011531052.1:n.247+5016G>C
XM_011532750.3:c.247+5016G>C	XP_011531052.1:n.247+5016G>C
XM_011532751.1:c.247+5016G>C	XP_011531053.1:n.247+5016G>C
XM_011532751.3:c.247+5016G>C	XP_011531053.1:n.247+5016G>C
XM_011532752.1:c.247+5016G>C	XP_011531054.1:n.247+5016G>C