Canonical Allele Identifier: CA350483559

Gene: ABCA12

Linked Data

• dbSNP Id: rs1365331501
• gnomAD v2: 2-215876243-C-T
• gnomAD v3: 2-215011519-C-T
• gnomAD v4: 2-215011519-C-T
• MyVariant Identifiers: chr2:g.215876243C>T (hg19) ; chr2:g.215011519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011519C>T , CM000664.2:g.215011519C>T	GRCh38
NC_000002.11:g.215876243C>T , CM000664.1:g.215876243C>T	GRCh37
NC_000002.10:g.215584488C>T	NCBI36
NG_007074.1:g.131909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2252G>A MANE Select	ENSP00000272895.7:p.Gly751Asp
ENST00000272895.11:c.2252G>A	ENSP00000272895.7:p.Gly751Asp
ENST00000389661.4:c.1298G>A	ENSP00000374312.4:p.Gly433Asp
NM_015657.3:c.1298G>A	NP_056472.2:p.Gly433Asp
NM_173076.2:c.2252G>A	NP_775099.2:p.Gly751Asp
NR_103740.1:n.2496G>A
XM_011510951.1:c.2252G>A	XP_011509253.1:p.Gly751Asp
XM_011510952.1:c.2252G>A	XP_011509254.1:p.Gly751Asp
XM_011510951.2:c.2252G>A	XP_011509253.1:p.Gly751Asp
NM_173076.3:c.2252G>A MANE Select	NP_775099.2:p.Gly751Asp
NR_103740.2:n.2694G>A
NM_015657.4:c.1298G>A	NP_056472.2:p.Gly433Asp