Canonical Allele Identifier: CA431319203

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1200082923
• gnomAD v2: 2-215802240-G-A
• gnomAD v4: 2-214937516-G-A
• COSMIC: COSM4091003 ; COSM4091004
• MyVariant Identifiers: chr2:g.215802240G>A (hg19) ; chr2:g.214937516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214937516G>A , CM000664.2:g.214937516G>A	GRCh38
NC_000002.11:g.215802240G>A , CM000664.1:g.215802240G>A	GRCh37
NC_000002.10:g.215510485G>A	NCBI36
NG_007074.1:g.205912C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7536C>T (ABCA12) MANE Select	ENSP00000272895.7:p.Tyr2512=
ENST00000272895.11:c.7536C>T (ABCA12)	ENSP00000272895.7:p.Tyr2512=
ENST00000389661.4:c.6582C>T (ABCA12)	ENSP00000374312.4:p.Tyr2194=
NM_015657.3:c.6582C>T (ABCA12)	NP_056472.2:p.Tyr2194=
NM_173076.2:c.7536C>T (ABCA12)	NP_775099.2:p.Tyr2512=
NR_103740.1:n.7836C>T (ABCA12)
NR_110292.1:n.322-10309G>A (SNHG31)
XM_011510951.1:c.7545C>T (ABCA12)	XP_011509253.1:p.Tyr2515=
XM_011510951.2:c.7545C>T (ABCA12)	XP_011509253.1:p.Tyr2515=
NM_173076.3:c.7536C>T (ABCA12) MANE Select	NP_775099.2:p.Tyr2512=
NR_103740.2:n.8034C>T (ABCA12)
NM_015657.4:c.6582C>T (ABCA12)	NP_056472.2:p.Tyr2194=