Canonical Allele Identifier: CA350096921

Gene: CRYGC

Linked Data

• COSMIC: COSM1742307
• MyVariant Identifiers: chr2:g.208994257G>A (hg19) ; chr2:g.208129533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129533G>A , CM000664.2:g.208129533G>A	GRCh38
NC_000002.11:g.208994257G>A , CM000664.1:g.208994257G>A	GRCh37
NC_000002.10:g.208702502G>A	NCBI36
NG_008038.1:g.5298C>T
NG_008039.1:g.57C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.160C>T MANE Select	ENSP00000282141.3:p.Gln54Ter
ENST00000282141.3:c.160C>T	ENSP00000282141.3:p.Gln54Ter
NM_020989.3:c.160C>T	NP_066269.1:p.Gln54Ter
NR_038437.1:n.98-7523G>A
XM_011510661.1:c.160C>T	XP_011508963.1:p.Gln54Ter
XM_011510662.1:c.160C>T	XP_011508964.1:p.Gln54Ter
XM_011510663.1:c.31C>T	XP_011508965.1:p.Gln11Ter
NM_020989.4:c.160C>T MANE Select	NP_066269.1:p.Gln54Ter