Canonical Allele Identifier: CA539837727

Gene: ABCA12

Linked Data

• dbSNP Id: rs1459535938
• gnomAD v2: 2-215876591-T-TG
• gnomAD v3: 2-215011867-T-TG
• gnomAD v4: 2-215011867-T-TG
• MyVariant Identifiers: chr2:g.215876591_215876592insG (hg19) ; chr2:g.215011867_215011868insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011867_215011868insG , CM000664.2:g.215011867_215011868insG	GRCh38
NC_000002.11:g.215876591_215876592insG , CM000664.1:g.215876591_215876592insG	GRCh37
NC_000002.10:g.215584836_215584837insG	NCBI36
NG_007074.1:g.131560_131561insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+103_2121+104insC MANE Select	ENSP00000272895.7:n.2121+103_2121+104insC
ENST00000272895.11:c.2121+103_2121+104insC	ENSP00000272895.7:n.2121+103_2121+104insC
ENST00000389661.4:c.1167+103_1167+104insC	ENSP00000374312.4:n.1167+103_1167+104insC
NM_015657.3:c.1167+103_1167+104insC	NP_056472.2:n.1167+103_1167+104insC
NM_173076.2:c.2121+103_2121+104insC	NP_775099.2:n.2121+103_2121+104insC
NR_103740.1:n.2365+103_2365+104insC
XM_011510951.1:c.2121+103_2121+104insC	XP_011509253.1:n.2121+103_2121+104insC
XM_011510952.1:c.2121+103_2121+104insC	XP_011509254.1:n.2121+103_2121+104insC
XM_011510951.2:c.2121+103_2121+104insC	XP_011509253.1:n.2121+103_2121+104insC
NM_173076.3:c.2121+103_2121+104insC MANE Select	NP_775099.2:n.2121+103_2121+104insC
NR_103740.2:n.2563+103_2563+104insC
NM_015657.4:c.1167+103_1167+104insC	NP_056472.2:n.1167+103_1167+104insC