Canonical Allele Identifier: CA539837708

Gene: ABCA12

Linked Data

• dbSNP Id: rs1156622006
• gnomAD v2: 2-215876159-T-A
• gnomAD v4: 2-215011435-T-A
• MyVariant Identifiers: chr2:g.215876159T>A (hg19) ; chr2:g.215011435T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011435T>A , CM000664.2:g.215011435T>A	GRCh38
NC_000002.11:g.215876159T>A , CM000664.1:g.215876159T>A	GRCh37
NC_000002.10:g.215584404T>A	NCBI36
NG_007074.1:g.131993A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.2332+4A>T MANE Select	ENSP00000272895.7:n.2332+4A>T
ENST00000272895.11:c.2332+4A>T	ENSP00000272895.7:n.2332+4A>T
ENST00000389661.4:c.1378+4A>T	ENSP00000374312.4:n.1378+4A>T
NM_015657.3:c.1378+4A>T	NP_056472.2:n.1378+4A>T
NM_173076.2:c.2332+4A>T	NP_775099.2:n.2332+4A>T
NR_103740.1:n.2576+4A>T
XM_011510951.1:c.2332+4A>T	XP_011509253.1:n.2332+4A>T
XM_011510952.1:c.2332+4A>T	XP_011509254.1:n.2332+4A>T
XM_011510951.2:c.2332+4A>T	XP_011509253.1:n.2332+4A>T
NM_173076.3:c.2332+4A>T MANE Select	NP_775099.2:n.2332+4A>T
NR_103740.2:n.2774+4A>T
NM_015657.4:c.1378+4A>T	NP_056472.2:n.1378+4A>T