Canonical Allele Identifier: CA431146944

Gene: ABCA12

Linked Data

• dbSNP Id: rs1301626533
• gnomAD v2: 2-215843534-C-G
• gnomAD v4: 2-214978810-C-G
• MyVariant Identifiers: chr2:g.215843534C>G (hg19) ; chr2:g.214978810C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978810C>G , CM000664.2:g.214978810C>G	GRCh38
NC_000002.11:g.215843534C>G , CM000664.1:g.215843534C>G	GRCh37
NC_000002.10:g.215551779C>G	NCBI36
NG_007074.1:g.164618G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4971G>C MANE Select	ENSP00000272895.7:p.Val1657=
ENST00000272895.11:c.4971G>C	ENSP00000272895.7:p.Val1657=
ENST00000389661.4:c.4017G>C	ENSP00000374312.4:p.Val1339=
NM_015657.3:c.4017G>C	NP_056472.2:p.Val1339=
NM_173076.2:c.4971G>C	NP_775099.2:p.Val1657=
NR_103740.1:n.5271G>C
XM_011510951.1:c.4980G>C	XP_011509253.1:p.Val1660=
XM_011510952.1:c.4980G>C	XP_011509254.1:p.Val1660=
XM_011510951.2:c.4980G>C	XP_011509253.1:p.Val1660=
NM_173076.3:c.4971G>C MANE Select	NP_775099.2:p.Val1657=
NR_103740.2:n.5469G>C
NM_015657.4:c.4017G>C	NP_056472.2:p.Val1339=