Canonical Allele Identifier: CA2077992

Gene: CRYGC

Linked Data

• dbSNP Id: rs774118743
• ExAC: 2:208994493 T / G
• gnomAD v2: 2-208994493-T-G
• gnomAD v4: 2-208129769-T-G
• MyVariant Identifiers: chr2:g.208994493T>G (hg19) ; chr2:g.208129769T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129769T>G , CM000664.2:g.208129769T>G	GRCh38
NC_000002.11:g.208994493T>G , CM000664.1:g.208994493T>G	GRCh37
NC_000002.10:g.208702738T>G	NCBI36
NG_008038.1:g.5062A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.9+15A>C MANE Select	ENSP00000282141.3:n.9+15A>C
ENST00000282141.3:c.9+15A>C	ENSP00000282141.3:n.9+15A>C
NM_020989.3:c.9+15A>C	NP_066269.1:n.9+15A>C
NR_038437.1:n.98-7287T>G
XM_011510661.1:c.9+15A>C	XP_011508963.1:n.9+15A>C
XM_011510662.1:c.9+15A>C	XP_011508964.1:n.9+15A>C
XM_011510663.1:c.-120-86A>C	XP_011508965.1:n.-120-86A>C
NM_020989.4:c.9+15A>C MANE Select	NP_066269.1:n.9+15A>C