Canonical Allele Identifier: CA350483437

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011465-G-A
• COSMIC: COSM5861709 ; COSM5861710
• MyVariant Identifiers: chr2:g.215876189G>A (hg19) ; chr2:g.215011465G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011465G>A , CM000664.2:g.215011465G>A	GRCh38
NC_000002.11:g.215876189G>A , CM000664.1:g.215876189G>A	GRCh37
NC_000002.10:g.215584434G>A	NCBI36
NG_007074.1:g.131963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2306C>T MANE Select	ENSP00000272895.7:p.Ser769Leu
ENST00000272895.11:c.2306C>T	ENSP00000272895.7:p.Ser769Leu
ENST00000389661.4:c.1352C>T	ENSP00000374312.4:p.Ser451Leu
NM_015657.3:c.1352C>T	NP_056472.2:p.Ser451Leu
NM_173076.2:c.2306C>T	NP_775099.2:p.Ser769Leu
NR_103740.1:n.2550C>T
XM_011510951.1:c.2306C>T	XP_011509253.1:p.Ser769Leu
XM_011510952.1:c.2306C>T	XP_011509254.1:p.Ser769Leu
XM_011510951.2:c.2306C>T	XP_011509253.1:p.Ser769Leu
NM_173076.3:c.2306C>T MANE Select	NP_775099.2:p.Ser769Leu
NR_103740.2:n.2748C>T
NM_015657.4:c.1352C>T	NP_056472.2:p.Ser451Leu