Canonical Allele Identifier: CA539536607

Gene: ABCA12

Linked Data

• dbSNP Id: rs1459139870
• gnomAD v2: 2-215845145-C-T
• gnomAD v4: 2-214980421-C-T
• MyVariant Identifiers: chr2:g.215845145C>T (hg19) ; chr2:g.214980421C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980421C>T , CM000664.2:g.214980421C>T	GRCh38
NC_000002.11:g.215845145C>T , CM000664.1:g.215845145C>T	GRCh37
NC_000002.10:g.215553390C>T	NCBI36
NG_007074.1:g.163007G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4740+62G>A MANE Select	ENSP00000272895.7:n.4740+62G>A
ENST00000272895.11:c.4740+62G>A	ENSP00000272895.7:n.4740+62G>A
ENST00000389661.4:c.3786+62G>A	ENSP00000374312.4:n.3786+62G>A
NM_015657.3:c.3786+62G>A	NP_056472.2:n.3786+62G>A
NM_173076.2:c.4740+62G>A	NP_775099.2:n.4740+62G>A
NR_103740.1:n.5040+62G>A
XM_011510951.1:c.4749+62G>A	XP_011509253.1:n.4749+62G>A
XM_011510952.1:c.4749+62G>A	XP_011509254.1:n.4749+62G>A
XM_011510951.2:c.4749+62G>A	XP_011509253.1:n.4749+62G>A
NM_173076.3:c.4740+62G>A MANE Select	NP_775099.2:n.4740+62G>A
NR_103740.2:n.5238+62G>A
NM_015657.4:c.3786+62G>A	NP_056472.2:n.3786+62G>A