Canonical Allele Identifier: CA347189331

Gene: MCEE

Linked Data

• dbSNP Id: rs1373600262
• gnomAD v2: 2-71351583-T-C
• gnomAD v4: 2-71124453-T-C
• MyVariant Identifiers: chr2:g.71351583T>C (hg19) ; chr2:g.71124453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124453T>C , CM000664.2:g.71124453T>C	GRCh38
NC_000002.11:g.71351583T>C , CM000664.1:g.71351583T>C	GRCh37
NC_000002.10:g.71205091T>C	NCBI36
NG_008977.1:g.10812A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000244217.6:c.131A>G MANE Select	ENSP00000244217.5:p.Asn44Ser
ENST00000244217.5:c.131A>G	ENSP00000244217.5:p.Asn44Ser
ENST00000486135.1:c.-155A>G	ENSP00000441569.1:n.-155A>G
ENST00000494660.6:c.-155A>G	ENSP00000437361.1:n.-155A>G
NM_032601.3:c.131A>G	NP_115990.3:p.Asn44Ser
XM_005264613.2:c.131A>G	XP_005264670.1:p.Asn44Ser
XR_939729.1:n.200A>G
XR_939729.2:n.200A>G
NM_032601.4:c.131A>G MANE Select	NP_115990.3:p.Asn44Ser