Canonical Allele Identifier: CA350483459

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 489123
• ClinVar RCV Id: RCV000578837
• dbSNP Id: rs772046102
• MyVariant Identifiers: chr2:g.215876199G>A (hg19) ; chr2:g.215011475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011475G>A , CM000664.2:g.215011475G>A	GRCh38
NC_000002.11:g.215876199G>A , CM000664.1:g.215876199G>A	GRCh37
NC_000002.10:g.215584444G>A	NCBI36
NG_007074.1:g.131953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2296C>T MANE Select	ENSP00000272895.7:p.Gln766Ter
ENST00000272895.11:c.2296C>T	ENSP00000272895.7:p.Gln766Ter
ENST00000389661.4:c.1342C>T	ENSP00000374312.4:p.Gln448Ter
NM_015657.3:c.1342C>T	NP_056472.2:p.Gln448Ter
NM_173076.2:c.2296C>T	NP_775099.2:p.Gln766Ter
NR_103740.1:n.2540C>T
XM_011510951.1:c.2296C>T	XP_011509253.1:p.Gln766Ter
XM_011510952.1:c.2296C>T	XP_011509254.1:p.Gln766Ter
XM_011510951.2:c.2296C>T	XP_011509253.1:p.Gln766Ter
NM_173076.3:c.2296C>T MANE Select	NP_775099.2:p.Gln766Ter
NR_103740.2:n.2738C>T
NM_015657.4:c.1342C>T	NP_056472.2:p.Gln448Ter