Canonical Allele Identifier: CA337714381
Gene: GYG2P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.12414049C>G
GRCh37 chrY:g.14525848C>G
gnomAD v3:
Y:12414049 C / G
gnomAD v4:
chrY-12414049-C-G
Joint Max Group AF 0.55188194 (AFR)
Genomes Max Group AF 0.55188194 (AFR)
dbSNP:
9785901
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12414049C>G , CM000686.2:g.12414049C>G GRCh38
NC_000024.9:g.14525848C>G , CM000686.1:g.14525848C>G GRCh37
NC_000024.8:g.13035856C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.4:n.7+6267G>C
ENST00000382965.3:n.174+6267G>C
ENST00000689264.1:n.259+6267G>C
ENST00000651802.1:n.191+6267G>C
ENST00000651835.1:n.177+6267G>C
ENST00000357871.6:n.141+6267G>C
ENST00000382963.5:n.57+6267G>C
ENST00000382965.2:n.7+6267G>C
ENST00000382966.5:n.141+6267G>C
ENST00000493160.5:n.405+3841G>C
NR_033667.1:n.180+6267G>C
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