Canonical Allele Identifier: CA431151448

Gene: ABCA12

Linked Data

• COSMIC: COSM316967 ; COSM5661930
• MyVariant Identifiers: chr2:g.215876233G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011509G>C , CM000664.2:g.215011509G>C	GRCh38
NC_000002.11:g.215876233G>C , CM000664.1:g.215876233G>C	GRCh37
NC_000002.10:g.215584478G>C	NCBI36
NG_007074.1:g.131919C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2262C>G MANE Select	ENSP00000272895.7:p.Thr754=
ENST00000272895.11:c.2262C>G	ENSP00000272895.7:p.Thr754=
ENST00000389661.4:c.1308C>G	ENSP00000374312.4:p.Thr436=
NM_015657.3:c.1308C>G	NP_056472.2:p.Thr436=
NM_173076.2:c.2262C>G	NP_775099.2:p.Thr754=
NR_103740.1:n.2506C>G
XM_011510951.1:c.2262C>G	XP_011509253.1:p.Thr754=
XM_011510952.1:c.2262C>G	XP_011509254.1:p.Thr754=
XM_011510951.2:c.2262C>G	XP_011509253.1:p.Thr754=
NM_173076.3:c.2262C>G MANE Select	NP_775099.2:p.Thr754=
NR_103740.2:n.2704C>G
NM_015657.4:c.1308C>G	NP_056472.2:p.Thr436=