Canonical Allele Identifier: CA429086168
Gene: LCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136555631G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798061G>A , CM000664.2:g.135798061G>A GRCh38
NC_000002.11:g.136555631G>A , CM000664.1:g.136555631G>A GRCh37
NC_000002.10:g.136272101G>A NCBI36
NG_008104.2:g.62109C>T , LRG_338:g.62109C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4944C>T MANE Select ENSP00000264162.2:p.Asp1648=
ENST00000264162.6:c.4944C>T ENSP00000264162.2:p.Asp1648=
ENST00000452974.1:c.3037C>T ENSP00000391231.1:n.3037C>T
NM_002299.2:c.4944C>T , LRG_338t1:c.4944C>T NP_002290.2:p.Asp1648=
NM_002299.3:c.4944C>T NP_002290.2:p.Asp1648=
XM_017004088.2:c.4944C>T XP_016859577.1:p.Asp1648=
NM_002299.4:c.4944C>T MANE Select NP_002290.2:p.Asp1648=