Canonical Allele Identifier: CA347188433

Gene: MCEE

Linked Data

• dbSNP Id: rs1462794040
• gnomAD v2: 2-71351485-C-A
• MyVariant Identifiers: chr2:g.71351485C>A (hg19) ; chr2:g.71124355C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124355C>A , CM000664.2:g.71124355C>A	GRCh38
NC_000002.11:g.71351485C>A , CM000664.1:g.71351485C>A	GRCh37
NC_000002.10:g.71204993C>A	NCBI36
NG_008977.1:g.10910G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.229G>T MANE Select	ENSP00000244217.5:p.Val77Phe
ENST00000244217.5:c.229G>T	ENSP00000244217.5:p.Val77Phe
ENST00000413592.5:c.84+13G>T	ENSP00000391140.1:n.84+13G>T
ENST00000486135.1:c.-57G>T	ENSP00000441569.1:n.-57G>T
ENST00000494660.6:c.-57G>T	ENSP00000437361.1:n.-57G>T
NM_032601.3:c.229G>T	NP_115990.3:p.Val77Phe
XM_005264613.2:c.216+13G>T	XP_005264670.1:n.216+13G>T
XR_939729.1:n.298G>T
XR_939729.2:n.298G>T
NM_032601.4:c.229G>T MANE Select	NP_115990.3:p.Val77Phe