Canonical Allele Identifier: CA350097200

Gene: CRYGC

Linked Data

• MyVariant Identifiers: chr2:g.208994287T>G (hg19) ; chr2:g.208129563T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129563T>G , CM000664.2:g.208129563T>G	GRCh38
NC_000002.11:g.208994287T>G , CM000664.1:g.208994287T>G	GRCh37
NC_000002.10:g.208702532T>G	NCBI36
NG_008038.1:g.5268A>C
NG_008039.1:g.27A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.130A>C MANE Select	ENSP00000282141.3:p.Met44Leu
ENST00000282141.3:c.130A>C	ENSP00000282141.3:p.Met44Leu
NM_020989.3:c.130A>C	NP_066269.1:p.Met44Leu
NR_038437.1:n.98-7493T>G
XM_011510661.1:c.130A>C	XP_011508963.1:p.Met44Leu
XM_011510662.1:c.130A>C	XP_011508964.1:p.Met44Leu
XM_011510663.1:c.1A>C	XP_011508965.1:p.Met1Leu
NM_020989.4:c.130A>C MANE Select	NP_066269.1:p.Met44Leu