Canonical Allele Identifier: CA378120871

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99830408-A-T
• MyVariant Identifiers: chr10:g.101590165A>T (hg19) ; chr10:g.99830408A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830408A>T , CM000672.2:g.99830408A>T	GRCh38
NC_000010.10:g.101590165A>T , CM000672.1:g.101590165A>T	GRCh37
NC_000010.9:g.101580155A>T	NCBI36
NG_011798.1:g.52703A>T
NG_011798.2:g.52811A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2722A>T MANE Select	ENSP00000497274.1:p.Ser908Cys
ENST00000370449.8:c.2722A>T	ENSP00000359478.4:p.Ser908Cys
NM_000392.4:c.2722A>T	NP_000383.1:p.Ser908Cys
XM_006717630.2:c.2026A>T	XP_006717693.1:p.Ser676Cys
XM_011539291.1:c.2722A>T	XP_011537593.1:p.Ser908Cys
XR_945604.1:n.2911A>T
XR_945605.1:n.2913A>T
NM_000392.5:c.2722A>T MANE Select	NP_000383.2:p.Ser908Cys
XM_006717630.3:c.2026A>T	XP_006717693.1:p.Ser676Cys
XM_011539291.3:c.2722A>T	XP_011537593.1:p.Ser908Cys
XR_945604.3:n.2965A>T
XR_945605.3:n.2965A>T