Canonical Allele Identifier: CA350461242

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2505004
• ClinVar RCV Id: RCV003233184
• gnomAD v4: 2-214980626-A-G
• MyVariant Identifiers: chr2:g.215845350A>G (hg19) ; chr2:g.214980626A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980626A>G , CM000664.2:g.214980626A>G	GRCh38
NC_000002.11:g.215845350A>G , CM000664.1:g.215845350A>G	GRCh37
NC_000002.10:g.215553595A>G	NCBI36
NG_007074.1:g.162802T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4597T>C MANE Select	ENSP00000272895.7:p.Ser1533Pro
ENST00000272895.11:c.4597T>C	ENSP00000272895.7:p.Ser1533Pro
ENST00000389661.4:c.3643T>C	ENSP00000374312.4:p.Ser1215Pro
NM_015657.3:c.3643T>C	NP_056472.2:p.Ser1215Pro
NM_173076.2:c.4597T>C	NP_775099.2:p.Ser1533Pro
NR_103740.1:n.4897T>C
XM_011510951.1:c.4606T>C	XP_011509253.1:p.Ser1536Pro
XM_011510952.1:c.4606T>C	XP_011509254.1:p.Ser1536Pro
XM_011510951.2:c.4606T>C	XP_011509253.1:p.Ser1536Pro
NM_173076.3:c.4597T>C MANE Select	NP_775099.2:p.Ser1533Pro
NR_103740.2:n.5095T>C
NM_015657.4:c.3643T>C	NP_056472.2:p.Ser1215Pro