Canonical Allele Identifier: CA350483825

Gene: ABCA12

Linked Data

• dbSNP Id: rs1700375910
• MyVariant Identifiers: chr2:g.215876350C>G (hg19) ; chr2:g.215011626C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011626C>G , CM000664.2:g.215011626C>G	GRCh38
NC_000002.11:g.215876350C>G , CM000664.1:g.215876350C>G	GRCh37
NC_000002.10:g.215584595C>G	NCBI36
NG_007074.1:g.131802G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2145G>C MANE Select	ENSP00000272895.7:p.Met715Ile
ENST00000272895.11:c.2145G>C	ENSP00000272895.7:p.Met715Ile
ENST00000389661.4:c.1191G>C	ENSP00000374312.4:p.Met397Ile
NM_015657.3:c.1191G>C	NP_056472.2:p.Met397Ile
NM_173076.2:c.2145G>C	NP_775099.2:p.Met715Ile
NR_103740.1:n.2389G>C
XM_011510951.1:c.2145G>C	XP_011509253.1:p.Met715Ile
XM_011510952.1:c.2145G>C	XP_011509254.1:p.Met715Ile
XM_011510951.2:c.2145G>C	XP_011509253.1:p.Met715Ile
NM_173076.3:c.2145G>C MANE Select	NP_775099.2:p.Met715Ile
NR_103740.2:n.2587G>C
NM_015657.4:c.1191G>C	NP_056472.2:p.Met397Ile