Canonical Allele Identifier: CA350458338

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215064121-C-T
• COSMIC: COSM218702
• MyVariant Identifiers: chr2:g.215928844C>T (hg19) ; chr2:g.215064121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215064121C>T , CM000664.2:g.215064121C>T	GRCh38
NC_000002.11:g.215928844C>T , CM000664.1:g.215928844C>T	GRCh37
NC_000002.10:g.215637089C>T	NCBI36
NG_007074.1:g.79308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.262G>A MANE Select	ENSP00000272895.7:p.Gly88Ser
ENST00000272895.11:c.262G>A	ENSP00000272895.7:p.Gly88Ser
NM_173076.2:c.262G>A	NP_775099.2:p.Gly88Ser
NR_103740.1:n.482G>A
XM_011510951.1:c.262G>A	XP_011509253.1:p.Gly88Ser
XM_011510952.1:c.262G>A	XP_011509254.1:p.Gly88Ser
XM_011510951.2:c.262G>A	XP_011509253.1:p.Gly88Ser
NM_173076.3:c.262G>A MANE Select	NP_775099.2:p.Gly88Ser
NR_103740.2:n.680G>A