Canonical Allele Identifier: CA2092020

Gene: ABCA12

Linked Data

• dbSNP Id: rs764993449
• ExAC: 2:215876345 G / C
• gnomAD v2: 2-215876345-G-C
• gnomAD v3: 2-215011621-G-C
• gnomAD v4: 2-215011621-G-C
• MyVariant Identifiers: chr2:g.215876345G>C (hg19) ; chr2:g.215011621G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011621G>C , CM000664.2:g.215011621G>C	GRCh38
NC_000002.11:g.215876345G>C , CM000664.1:g.215876345G>C	GRCh37
NC_000002.10:g.215584590G>C	NCBI36
NG_007074.1:g.131807C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2150C>G MANE Select	ENSP00000272895.7:p.Thr717Arg
ENST00000272895.11:c.2150C>G	ENSP00000272895.7:p.Thr717Arg
ENST00000389661.4:c.1196C>G	ENSP00000374312.4:p.Thr399Arg
NM_015657.3:c.1196C>G	NP_056472.2:p.Thr399Arg
NM_173076.2:c.2150C>G	NP_775099.2:p.Thr717Arg
NR_103740.1:n.2394C>G
XM_011510951.1:c.2150C>G	XP_011509253.1:p.Thr717Arg
XM_011510952.1:c.2150C>G	XP_011509254.1:p.Thr717Arg
XM_011510951.2:c.2150C>G	XP_011509253.1:p.Thr717Arg
NM_173076.3:c.2150C>G MANE Select	NP_775099.2:p.Thr717Arg
NR_103740.2:n.2592C>G
NM_015657.4:c.1196C>G	NP_056472.2:p.Thr399Arg