Canonical Allele Identifier: CA539837495

Gene: ABCA12

Linked Data

• dbSNP Id: rs1216940248
• gnomAD v2: 2-215884227-A-G
• gnomAD v4: 2-215019503-A-G
• MyVariant Identifiers: chr2:g.215884227A>G (hg19) ; chr2:g.215019503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019503A>G , CM000664.2:g.215019503A>G	GRCh38
NC_000002.11:g.215884227A>G , CM000664.1:g.215884227A>G	GRCh37
NC_000002.10:g.215592472A>G	NCBI36
NG_007074.1:g.123925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1544+37T>C MANE Select	ENSP00000272895.7:n.1544+37T>C
ENST00000272895.11:c.1544+37T>C	ENSP00000272895.7:n.1544+37T>C
ENST00000389661.4:c.590+37T>C	ENSP00000374312.4:n.590+37T>C
NM_015657.3:c.590+37T>C	NP_056472.2:n.590+37T>C
NM_173076.2:c.1544+37T>C	NP_775099.2:n.1544+37T>C
NR_103740.1:n.1788+37T>C
XM_011510951.1:c.1544+37T>C	XP_011509253.1:n.1544+37T>C
XM_011510952.1:c.1544+37T>C	XP_011509254.1:n.1544+37T>C
XM_011510951.2:c.1544+37T>C	XP_011509253.1:n.1544+37T>C
NM_173076.3:c.1544+37T>C MANE Select	NP_775099.2:n.1544+37T>C
NR_103740.2:n.1986+37T>C
NM_015657.4:c.590+37T>C	NP_056472.2:n.590+37T>C