Canonical Allele Identifier: CA2092258

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2964153
• ClinVar RCV Id: RCV003820255
• dbSNP Id: rs542018834
• ExAC: 2:215884539 G / C
• gnomAD v2: 2-215884539-G-C
• gnomAD v3: 2-215019815-G-C
• gnomAD v4: 2-215019815-G-C
• MyVariant Identifiers: chr2:g.215884539G>C (hg19) ; chr2:g.215019815G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019815G>C , CM000664.2:g.215019815G>C	GRCh38
NC_000002.11:g.215884539G>C , CM000664.1:g.215884539G>C	GRCh37
NC_000002.10:g.215592784G>C	NCBI36
NG_007074.1:g.123613C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1288-19C>G MANE Select	ENSP00000272895.7:n.1288-19C>G
ENST00000272895.11:c.1288-19C>G	ENSP00000272895.7:n.1288-19C>G
ENST00000389661.4:c.334-19C>G	ENSP00000374312.4:n.334-19C>G
NM_015657.3:c.334-19C>G	NP_056472.2:n.334-19C>G
NM_173076.2:c.1288-19C>G	NP_775099.2:n.1288-19C>G
NR_103740.1:n.1532-19C>G
XM_011510951.1:c.1288-19C>G	XP_011509253.1:n.1288-19C>G
XM_011510952.1:c.1288-19C>G	XP_011509254.1:n.1288-19C>G
XM_011510951.2:c.1288-19C>G	XP_011509253.1:n.1288-19C>G
NM_173076.3:c.1288-19C>G MANE Select	NP_775099.2:n.1288-19C>G
NR_103740.2:n.1730-19C>G
NM_015657.4:c.334-19C>G	NP_056472.2:n.334-19C>G