Canonical Allele Identifier: CA2092594

Gene: ABCA12

Linked Data

• dbSNP Id: rs749134581
• ExAC: 2:215928748 A / C
• gnomAD v2: 2-215928748-A-C
• gnomAD v4: 2-215064025-A-C
• MyVariant Identifiers: chr2:g.215928748A>C (hg19) ; chr2:g.215064025A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215064025A>C , CM000664.2:g.215064025A>C	GRCh38
NC_000002.11:g.215928748A>C , CM000664.1:g.215928748A>C	GRCh37
NC_000002.10:g.215636993A>C	NCBI36
NG_007074.1:g.79404T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.317+41T>G MANE Select	ENSP00000272895.7:n.317+41T>G
ENST00000272895.11:c.317+41T>G	ENSP00000272895.7:n.317+41T>G
NM_173076.2:c.317+41T>G	NP_775099.2:n.317+41T>G
NR_103740.1:n.537+41T>G
XM_011510951.1:c.317+41T>G	XP_011509253.1:n.317+41T>G
XM_011510952.1:c.317+41T>G	XP_011509254.1:n.317+41T>G
XM_011510951.2:c.317+41T>G	XP_011509253.1:n.317+41T>G
NM_173076.3:c.317+41T>G MANE Select	NP_775099.2:n.317+41T>G
NR_103740.2:n.735+41T>G