Canonical Allele Identifier: CA431116264

Gene: CRYGC

Linked Data

• gnomAD v4: 2-208129603-G-A
• MyVariant Identifiers: chr2:g.208994327G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129603G>A , CM000664.2:g.208129603G>A	GRCh38
NC_000002.11:g.208994327G>A , CM000664.1:g.208994327G>A	GRCh37
NC_000002.10:g.208702572G>A	NCBI36
NG_008038.1:g.5228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.90C>T MANE Select	ENSP00000282141.3:p.Phe30=
ENST00000282141.3:c.90C>T	ENSP00000282141.3:p.Phe30=
NM_020989.3:c.90C>T	NP_066269.1:p.Phe30=
NR_038437.1:n.98-7453G>A
XM_011510661.1:c.90C>T	XP_011508963.1:p.Phe30=
XM_011510662.1:c.90C>T	XP_011508964.1:p.Phe30=
XM_011510663.1:c.-40C>T	XP_011508965.1:n.-40C>T
NM_020989.4:c.90C>T MANE Select	NP_066269.1:p.Phe30=