Canonical Allele Identifier: CA2077946

Gene: CRYGC

Linked Data

• ClinVar Variation Id: 772583
• ClinVar RCV Id: RCV001510546
• dbSNP Id: rs184571576
• ExAC: 2:208994297 G / A
• gnomAD v2: 2-208994297-G-A
• gnomAD v3: 2-208129573-G-A
• gnomAD v4: 2-208129573-G-A
• MyVariant Identifiers: chr2:g.208994297G>A (hg19) ; chr2:g.208129573G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129573G>A , CM000664.2:g.208129573G>A	GRCh38
NC_000002.11:g.208994297G>A , CM000664.1:g.208994297G>A	GRCh37
NC_000002.10:g.208702542G>A	NCBI36
NG_008038.1:g.5258C>T
NG_008039.1:g.17C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.120C>T MANE Select	ENSP00000282141.3:p.Ser40=
ENST00000282141.3:c.120C>T	ENSP00000282141.3:p.Ser40=
NM_020989.3:c.120C>T	NP_066269.1:p.Ser40=
NR_038437.1:n.98-7483G>A
XM_011510661.1:c.120C>T	XP_011508963.1:p.Ser40=
XM_011510662.1:c.120C>T	XP_011508964.1:p.Ser40=
XM_011510663.1:c.-10C>T	XP_011508965.1:n.-10C>T
NM_020989.4:c.120C>T MANE Select	NP_066269.1:p.Ser40=