Canonical Allele Identifier: CA539527118

Gene: ABCA12

Linked Data

• dbSNP Id: rs1252335970
• gnomAD v2: 2-215928747-G-C
• gnomAD v4: 2-215064024-G-C
• MyVariant Identifiers: chr2:g.215928747G>C (hg19) ; chr2:g.215064024G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215064024G>C , CM000664.2:g.215064024G>C	GRCh38
NC_000002.11:g.215928747G>C , CM000664.1:g.215928747G>C	GRCh37
NC_000002.10:g.215636992G>C	NCBI36
NG_007074.1:g.79405C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.317+42C>G MANE Select	ENSP00000272895.7:n.317+42C>G
ENST00000272895.11:c.317+42C>G	ENSP00000272895.7:n.317+42C>G
NM_173076.2:c.317+42C>G	NP_775099.2:n.317+42C>G
NR_103740.1:n.537+42C>G
XM_011510951.1:c.317+42C>G	XP_011509253.1:n.317+42C>G
XM_011510952.1:c.317+42C>G	XP_011509254.1:n.317+42C>G
XM_011510951.2:c.317+42C>G	XP_011509253.1:n.317+42C>G
NM_173076.3:c.317+42C>G MANE Select	NP_775099.2:n.317+42C>G
NR_103740.2:n.735+42C>G